Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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Canonical Allele Identifier: PA2825058171

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1733162

ClinVar RCV Id: RCV002455275

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ile1203Leu	CA392324666 NM_000138.5:c.3607A>T CA392324668 NM_000138.5:c.3607A>C